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. 2022 Feb 25:16:517-529.
doi: 10.2147/OPTH.S318098. eCollection 2022.

Genotyping of Clinical Parameters in Age-Related Macular Degeneration

Priya Battu #  1 , Kaushal Sharma #  1 , Rajarathna Thangavel  2 , Ramandeep Singh  3 , Suresh Sharma  4 , Vinod Srivastava  5 , Akshay Anand  1
Affiliations

Genotyping of Clinical Parameters in Age-Related Macular Degeneration

Priya Battu et al. Clin Ophthalmol. .

Abstract

Background: Optical coherence tomography (OCT) parameters like subretinal fluid (SRF), intra retinal fluid (IRF) and retinal detachment (RPED) etc are routinely accessed by ophthalmologists in patients with retinal complaints. Correlation of OCT findings with genotype and phenotype of AMD patients is relatively unexplored. Here, we have investigated the association of OCT parameters' with genetic variants along with protein expressions and examined their clinical relevance with AREDS (Age-Related Eye Disease Study) criteria in AMD patients.

Methods: For this study, samples were recruited from Advanced Eye Centre, PGIMER, Chandigarh, India. Case-only analysis of anonymous imaging data (OCT/Fundus) acquired during the routine clinical evaluation of patients was done to examine the OCT findings in the AMD patients. TaqMan genotyping assays were used to analyze the single nucleotide polymorphisms in these patients. ELISA (enzyme linked immunosorbent assay) was used to estimate the protein levels of these genes in serum. Information pertaining to lifestyle/habits was also collected by administering a standard questionnaire at the time of recruitment of the patients.

Results: Intra-retinal fluid (IRF) was associated significantly with the LIPC genotype (p=0.04). Similarly, smoking status and early AMD were also associated with the APOE genotype (p=0.03). Additionally, variants of IER-3 and SLC16A8 were also found to be associated with co-morbidities (p=0.02) and males (p=0.02), respectively. RPED has shown a significant association with AREDS criteria, which demonstrated an area under AUROC around 72%.

Conclusion: Results of genotype-phenotype association can give a precise impression of AMD severity and can be beneficial for the early diagnosis of AMD cases.

Keywords: APOE; AREDS; HTRA1; IPC; OCT parameters; RPE detachment; TIMP-3; age-related macular degeneration; anti-VEGF therapy.

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Conflict of interest statement

The authors report no conflicts of interest in this work.

Figures

Figure 1
Figure 1
Area under ROC (AUROC) to predict AMD cases from the normal population based on the criteria of association between RPED and AREDS.
See this image and copyright information in PMC

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